Clinical Trial Details

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Print record Print record
Trial Information

Broad Health Condition Rare Disorders
Undiagnosed Disorders
Disorders of Unknown Prevalence
Cornelia De Lange Syndrome
Prenatal Benign Hypophosphatasia
Perinatal Lethal Hypophosphatasia
Odontohypophosphatasia
Adult Hypophosphatasia
Childhood-onset Hypophosphatasia
Infantile Hypophosphatasia
Hypophosphatasia
Kabuki Syndrome
Bohring-Opitz Syndrome
Narcolepsy Without Cataplexy
Narcolepsy-cataplexy
Hypersomnolence Disorder
Idiopathic Hypersomnia Without Long Sleep Time
Idiopathic Hypersomnia With Long Sleep Time
Idiopathic Hypersomnia
Kleine-Levin Syndrome
Kawasaki Disease
Leiomyosarcoma
Leiomyosarcoma of the Corpus Uteri
Leiomyosarcoma of the Cervix Uteri
Leiomyosarcoma of Small Intestine
Acquired Myasthenia Gravis
Addison Disease
Hyperacusis (Hyperacousis)
Juvenile Myasthenia Gravis
Transient Neonatal Myasthenia Gravis
Williams Syndrome
Lyme Disease
Myasthenia Gravis
Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)
Isolated Klippel-Feil Syndrome
Frasier Syndrome
Denys-Drash Syndrome
Beckwith-Wiedemann Syndrome
Emanuel Syndrome
Isolated Aniridia
Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11
Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15
Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion
Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication
Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion
Axenfeld-Rieger Syndrome
Aniridia-intellectual Disability Syndrome
Aniridia - Renal Agenesis - Psychomotor Retardation
Aniridia - Ptosis - Intellectual Disability - Familial Obesity
Aniridia - Cerebellar Ataxia - Intellectual Disability
Aniridia - Absent Patella
Aniridia
Peters Anomaly - Cataract
Peters Anomaly
Potocki-Shaffer Syndrome
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11
Silver-Russell Syndrome Due to Imprinting Defect of 11p15
Silver-Russell Syndrome Due to 11p15 Microduplication
Syndromic Aniridia
WAGR Syndrome
Wolf-Hirschhorn Syndrome
4p16.3 Microduplication Syndrome
4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome
Autosomal Recessive Stickler Syndrome
Stickler Syndrome Type 2
Stickler Syndrome Type 1
Stickler Syndrome
Mucolipidosis Type 4
X-linked Spinocerebellar Ataxia Type 4
X-linked Spinocerebellar Ataxia Type 3
X-linked Intellectual Disability - Ataxia - Apraxia
X-linked Progressive Cerebellar Ataxia
X-linked Non Progressive Cerebellar Ataxia
X-linked Cerebellar Ataxia
Vitamin B12 Deficiency Ataxia
Toxic Exposure Ataxia
Unclassified Autosomal Dominant Spinocerebellar Ataxia
Thyroid Antibody Ataxia
Sporadic Adult-onset Ataxia of Unknown Etiology
Spinocerebellar Ataxia With Oculomotor Anomaly
Spinocerebellar Ataxia With Epilepsy
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Spinocerebellar Ataxia Type 8
Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 6
Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 37
Spinocerebellar Ataxia Type 36
Spinocerebellar Ataxia Type 35
Spinocerebellar Ataxia Type 34
Spinocerebellar Ataxia Type 32
Spinocerebellar Ataxia Type 31
Spinocerebellar Ataxia Type 30
Spinocerebellar Ataxia Type 3
Spinocerebellar Ataxia Type 29
Spinocerebellar Ataxia Type 28
Spinocerebellar Ataxia Type 27
Spinocerebellar Ataxia Type 26
Spinocerebellar Ataxia Type 25
Spinocerebellar Ataxia Type 23
Spinocerebellar Ataxia Type 22
Spinocerebellar Ataxia Type 21
Spinocerebellar Ataxia Type 20
Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 19/22
Spinocerebellar Ataxia Type 18
Spinocerebellar Ataxia Type 17
Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 15/16
Spinocerebellar Ataxia Type 14
Spinocerebellar Ataxia Type 13
Spinocerebellar Ataxia Type 12
Spinocerebellar Ataxia Type 11
Spinocerebellar Ataxia Type 10
Spinocerebellar Ataxia Type 1 With Axonal Neuropathy
Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia - Unknown
Spinocerebellar Ataxia - Dysmorphism
Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
Spectrin-associated Autosomal Recessive Cerebellar Ataxia
Spasticity-ataxia-gait Anomalies Syndrome
Spastic Ataxia With Congenital Miosis
Spastic Ataxia - Corneal Dystrophy
Spastic Ataxia
Rare Hereditary Ataxia
Rare Ataxia
Recessive Mitochondrial Ataxia Syndrome
Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
Posterior Column Ataxia - Retinitis Pigmentosa
Post-Stroke Ataxia
Post-Head Injury Ataxia
Post Vaccination Ataxia
Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract
Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus
Non-progressive Cerebellar Ataxia With Intellectual Disability
Non-hereditary Degenerative Ataxia
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity
Olivopontocerebellar Atrophy - Deafness
NARP Syndrome
Myoclonus - Cerebellar Ataxia - Deafness
Multiple System Atrophy, Parkinsonian Type
Multiple System Atrophy, Cerebellar Type
Multiple System Atrophy
Maternally-inherited Leigh Syndrome
Machado-Joseph Disease Type 3
Machado-Joseph Disease Type 2
Machado-Joseph Disease Type 1
Lethal Ataxia With Deafness and Optic Atrophy
Leigh Syndrome
Leukoencephalopathy With Mild Cerebellar Ataxia and White Matter Edema
Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination
Leigh Syndrome With Nephrotic Syndrome
Leigh Syndrome With Leukodystrophy
Leigh Syndrome With Cardiomyopathy
Late-onset Ataxia With Dementia
Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome
Infection or Post Infection Ataxia
Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Infantile Onset Spinocerebellar Ataxia
GAD Ataxia
Hereditary Episodic Ataxia
Gliadin/Gluten Ataxia
Friedreich Ataxia
Fragile X-associated Tremor/Ataxia Syndrome
Familial Paroxysmal Ataxia
Exposure to Medications Ataxia
Episodic Ataxia With Slurred Speech
Episodic Ataxia Unknown Type
Episodic Ataxia Type 7
Episodic Ataxia Type 6
Episodic Ataxia Type 5
Episodic Ataxia Type 4
Episodic Ataxia Type 3
Episodic Ataxia Type 1
Epilepsy and/or Ataxia With Myoclonus as Major Feature
Early-onset Spastic Ataxia-neuropathy Syndrome
Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity
Early-onset Cerebellar Ataxia With Retained Tendon Reflexes
Early-onset Ataxia With Dementia
Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Dilated Cardiomyopathy With Ataxia
Cataract - Ataxia - Deafness
Cerebellar Ataxia, Cayman Type
Cerebellar Ataxia With Peripheral Neuropathy
Cerebellar Ataxia - Hypogonadism
Cerebellar Ataxia - Ectodermal Dysplasia
Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss
Brain Tumor Ataxia
Brachydactyly - Nystagmus - Cerebellar Ataxia
Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia
Autosomal Recessive Syndromic Cerebellar Ataxia
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria
Autosomal Recessive Spastic Ataxia
Autosomal Recessive Metabolic Cerebellar Ataxia
Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine
Autosomal Recessive Ataxia, Beauce Type
Autosomal Recessive Ataxia Due to Ubiquinone Deficiency
Autosomal Recessive Ataxia Due to PEX10 Deficiency
Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia
Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency
Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency
Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome
Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity
Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency
Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect
Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion
Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation
Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness
Autosomal Recessive Cerebellar Ataxia
Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly
Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation
Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy
Autosomal Dominant Spastic Ataxia Type 1
Autosomal Dominant Spastic Ataxia
Autosomal Dominant Optic Atrophy
Ataxia-telangiectasia Variant
Ataxia-telangiectasia
Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy
Autosomal Dominant Cerebellar Ataxia Type 4
Autosomal Dominant Cerebellar Ataxia Type 3
Autosomal Dominant Cerebellar Ataxia Type 2
Autosomal Dominant Cerebellar Ataxia Type 1
Autosomal Dominant Cerebellar Ataxia
Ataxia-telangiectasia-like Disorder
Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome
Ataxia-deafness-intellectual Disability Syndrome
Ataxia With Vitamin E Deficiency
Ataxia With Dementia
Ataxia Neuropathy Spectrum
Ataxia - Tapetoretinal Degeneration
Ataxia - Photosensitivity - Short Stature
Ataxia - Pancytopenia
Ataxia - Oculomotor Apraxia Type 1
Ataxia - Hypogonadism - Choroidal Dystrophy
Ataxia - Other
Ataxia - Genetic Diagnosis - Unknown
Acquired Ataxia
Adult-onset Autosomal Recessive Cerebellar Ataxia
Alcohol Related Ataxia
Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia Type II
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2
Multiple Endocrine Neoplasia, Type IV
Multiple Endocrine Neoplasia, Type 3
Multiple Endocrine Neoplasia (MEN) Syndrome
Multiple Endocrine Neoplasia Type 2B
Multiple Endocrine Neoplasia Type 2A
Atypical Hemolytic Uremic Syndrome
Atypical HUS
Wiedemann-Steiner Syndrome
Breast Implant-Associated Anaplastic Large Cell Lymphoma
Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)
Hemophagocytic Lymphohistiocytosis
Behcet's Disease
Alagille Syndrome
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)
Lowe Syndrome
Pitt Hopkins Syndrome
1p36 Deletion Syndrome
Jansen Type Metaphyseal Chondrodysplasia
Cockayne Syndrome
Chronic Recurrent Multifocal Osteomyelitis
CRMO
Malan Syndrome
Hereditary Sensory and Autonomic Neuropathy Type Ie

Specific Health Condition


















































































































































































































































































Trial Focus

Recruitment statusRecruiting

Trial summary

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux
Falls, South Dakota. It provides researchers with a centralized, international patient
registry for all rare diseases. This program allows patients and researchers to connect as
easily as possible to help advance treatments and cures for rare diseases. The CoRDS team
works with patient advocacy groups, individuals and researchers to help in the advancement of
research in over 7,000 rare diseases. The registry is free for patients to enroll and
researchers to access. Visit sanfordresearch.org/CoRDS to enroll.
Eligibility

Key inclusion criteria

Inclusion Criteria:

    -  Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an
       unaffected carrier of a rare/uncommon disease

  Exclusion Criteria:

    -  Diagnosis of a disease which is not rare

GenderAll

Can Healthy volunteers participate?No

Contact details and further information

Sponsor Primary Sponsor Type: Other
Primary Sponsor Name: Sanford Health

Trial websitehttps://clinicaltrials.gov/show/NCT01793168

Trial IDNCT01793168